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Topic Review
OGT (Gene)
UDP-N-acetylglucosamine—peptide N-acetylglucosaminyltransferase (EC 2.4.1.255), also known as O-linked β-N-acetylglucosamine transferase and O-GlcNAc transferase, OGT is an enzyme that in humans is encoded by the OGT gene.
  • 791
  • 16 Nov 2022
Topic Review
Chronomodulated Strategy-Based Therapy for Rhythmic Seizures
Epilepsy is a neurological disorder characterized by hypersynchronous recurrent neuronal activities and seizures, as well as loss of muscular control and sometimes awareness. Clinically, seizures have been reported to display daily variations. Conversely, circadian misalignment and circadian clock gene variants contribute to epileptic pathogenesis. Elucidation of the genetic bases of epilepsy is of great importance because the genetic variability of the patients affects the efficacies of antiepileptic drugs (AEDs).
  • 791
  • 15 Mar 2023
Topic Review
Genes Involved in the Pathogenic Potential of Mucorales
The classification of Mucorales encompasses a collection of basal fungi that have traditionally demonstrated an aversion to modern genetic manipulation techniques. This aversion led to a scarcity of knowledge regarding their biology compared to other fungal groups. However, the emergence of mucormycosis, a fungal disease caused by Mucorales, has attracted the attention of the clinical field, mainly because available therapies are ineffective for decreasing the fatal outcome associated with the disease. 
  • 791
  • 22 Mar 2023
Topic Review
Developing Genomic Resources for Crop Improvement
The emerging sequencing technologies target generating more data with fewer inputs and at lower costs. This has also translated to an increase in the number and type of corresponding applications in genomics besides enhanced computational capacities (both hardware and software). Alongside the evolving DNA sequencing landscape, bioinformatics research teams have also evolved to accommodate the increasingly demanding techniques used to combine and interpret data, leading to many researchers moving from the lab to the computer. 
  • 791
  • 07 Nov 2023
Topic Review
Systemic Mastocytosis
Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.  
  • 790
  • 23 Dec 2020
Topic Review
Generalized Pustular Psoriasis
Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis.
  • 790
  • 23 Dec 2020
Topic Review
Keratoderma with Woolly Hair
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems.
  • 790
  • 23 Dec 2020
Topic Review
Autosomal Recessive Hypotrichosis
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.
  • 790
  • 24 Dec 2020
Topic Review
Bart-Pumphrey Syndrome
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.
  • 790
  • 24 Dec 2020
Topic Review
DYNC1H1 Gene
Dynein Cytoplasmic 1 Heavy Chain 1
  • 790
  • 24 Dec 2020
Topic Review
CAV3-Related Distal Myopathy
CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet.
  • 790
  • 24 Dec 2020
Topic Review
Carnitine Palmitoyltransferase II Deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.
  • 790
  • 19 Apr 2021
Topic Review
OPA1 Gene
OPA1, mitochondrial dynamin like GTPase
  • 790
  • 24 Dec 2020
Topic Review
Muscular Dystrophies (MD)
Muscular dystrophies (MDs) are genetic disorders caused by mutations in several genes that lead to the lack of or dysfunctional production of proteins that are essential for myofiber integrity and contraction. MDs are a group of diseases that cause, but are not restricted to, progressive muscle destruction and weakness, with nine most common forms: myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal, and Emery–Dreifuss.
  • 790
  • 22 Nov 2021
Topic Review
HADHB Gene
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
  • 789
  • 22 Dec 2020
Topic Review
CYBA Gene
Cytochrome B-245 Alpha Chain: The CYBA gene provides instructions for making a protein called the cytochrome b-245 alpha chain (also known as p22-phox). 
  • 789
  • 23 Dec 2020
Topic Review
CLCN2-Related Leukoencephalopathy
CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen much over time. Most affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have frequent headaches. Individuals diagnosed in childhood usually also have learning disabilities, while those whose symptoms begin in adulthood typically also have vision problems. These vision problems are due to breakdown of the light-sensing tissue at the back of the eyes (retinopathy) or degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Some affected individuals have mild muscle stiffness (spasticity). Affected males are unable to father children (infertile).
  • 789
  • 24 Dec 2020
Topic Review
SERPINC1 Gene
serpin family C member 1
  • 789
  • 24 Dec 2020
Topic Review
STAT1 Gene
Signal transducer and activator of transcription 1: The STAT1 gene provides instructions for making a protein that is involved in multiple immune system functions, including the body's defense against a fungus called Candida.
  • 788
  • 22 Dec 2020
Topic Review
Molybdenum Cofactor Deficiency
Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse."
  • 788
  • 23 Dec 2020
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